AAD11815.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
dyskerin
NCBI Official Synonym Full Names
dyskeratosis congenita 1, dyskerin
NCBI Official Synonym Symbols
DKC; CBF5; DKCX; NAP57; NOLA4; XAP101 [Similar Products]
NCBI Protein Information
H/ACA ribonucleoprotein complex subunit 4
UniProt Protein Name
H/ACA ribonucleoprotein complex subunit 4
UniProt Synonym Protein Names
CBF5 homolog; Dyskerin; Nopp140-associated protein of 57 kDa; Nucleolar protein NAP57; Nucleolar protein family A member 4; snoRNP protein DKC1
UniProt Synonym Gene Names
UniProt Entry Name
DKC1_HUMAN
NCBI Summary for DKC1
This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
UniProt Comments for DKC1
dyskerin: Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. Defects in DKC1 are a cause of dyskeratosis congenita X- linked recessive (XDKC). XDKC is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome (HHS). HHS is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation. Belongs to the pseudouridine synthase TruB family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 5.4.99.-; Lyase; RNA-binding; Nucleolus; Isomerase; RNA processing
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: nucleoplasm; Cajal body; cytoplasm; telomerase holoenzyme complex; nucleolus; nucleus
Molecular Function: telomerase activity; protein binding; RNA binding; pseudouridine synthase activity
Biological Process: RNA processing; cell proliferation; pseudouridine synthesis; telomere maintenance via telomerase; telomere maintenance; rRNA processing
Disease: Dyskeratosis Congenita, X-linked
Research Articles on DKC1
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Pathways associated with anti-DKC1 antibody
Diseases associated with anti-DKC1 antibody
Organs/Tissues associated with anti-DKC1 antibody
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